Osteogenic Sarcoma

Genetic Modifiers of Osteogenic Sarcoma (Osteosarcoma)

DCEG investigators have a major interest in identifying genetic modifiers of risk for osteogenic sarcoma. This work builds upon initial observations by Dr. Sharon Savage in the Bone Disease and Injury Study of Osteosarcoma. An analysis of 11 growth-related genes identified a functional single nucleotide polymorphism (SNP) in IGF2R that was associated with an odds ratio of 2.0. Selected TP53 SNPs were associated with 6- to 8-fold increases in osteosarcoma risk, and a reduced risk (i.e., a protective effect) was observed for specific haplotypes in the telomere genes TERF1, POT1 and TEP1. A collaboration has been established with the Children's Oncology Group to extend these observations into a larger series of osteosarcoma cases and controls. Studies include: